A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

Basak Yalici-Armagan; Serkan Kabacam; Zihni Ekim Taskiran; Özay Gököz; Gülen Eda Utine; Sibel Ersoy-Evans

doi:10.1111/pde.14087

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

Pediatr Dermatol. 2020 Mar;37(2):358-361. doi: 10.1111/pde.14087. Epub 2020 Jan 21.

Authors

Basak Yalici-Armagan¹, Serkan Kabacam², Zihni Ekim Taskiran³, Özay Gököz⁴, Gülen Eda Utine⁵, Sibel Ersoy-Evans¹

Affiliations

¹ Department of Dermatology and Venereology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
² Department of Medical Genetics, Faculty of Medicine, Molecular Biologist, Hacettepe University, Ankara, Turkey.
³ Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
⁴ Department of Pathology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
⁵ Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

PMID: 31965605
DOI: 10.1111/pde.14087

Abstract

Epidermolysis bullosa simplex migratory circinate erythema (EBS-Migr) is an uncommon subtype of EBS. We report a case of EBS-MIGR with a novel heterozygous pathogenic mutation in exon 9 (frameshift deletion c.1650delC) and likely benign heterozygous mutation in exon 2 (missense c.591C > A) of keratin 5. This novel pathogenic mutation in KRT5 expands the molecular spectrum of this rare subtype of EBS.

Keywords: epidermolysis bullosa; genetic diseases/mechanisms; genodermatosis.

Publication types

Case Reports

MeSH terms

Child, Preschool
Epidermolysis Bullosa Simplex / genetics*
Epidermolysis Bullosa Simplex / pathology*
Erythema / genetics*
Erythema / pathology*
Humans
Keratin-5 / genetics*
Male
Mutation / genetics*

Substances

KRT5 protein, human
Keratin-5

Supplementary concepts

Epidermolysis Bullosa Simplex with Migratory Circinate Erythema